在X染色体选择Xist基因的作用
Y Marahrens1, J Loring, R Jaenisch
1Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA.
Cell
|March 20, 1998
概括
在雌性哺乳动物中,Xist基因对X染色体无活化至关重要. 一个特定的删除揭示了Xist.
科学领域:
- 遗传学 是一个遗传学.
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 哺乳动物生物学 哺乳动物生物学
背景情况:
- 在雌性哺乳动物中,随机X染色体失活是关键的发育过程.
- 据认为,X-无活性特异性转录 (Xist) 基因对异色色素化至关重要,它在选择机制的下游起作用.
研究的目的:
- 研究Xist基因在X染色体选择机制中的作用.
- 为了确定Xist是否参与初始选择X染色体被禁用.
主要方法:
- 为了Xist基因 (外因子1-5) 的内部删除,生成异构的雌性哺乳动物.
- 在这些异质合体雌性中分析X染色体无活化模式.
主要成果:
- 具有Xist删除的雌性表现出野生类型X染色体的初级非随机无活化.
- 这表明Xist基因含有对选择机制本身至关重要的元素.
结论:
- Xist基因在X染色体失活的选择机制中发挥着直接作用,而不仅仅是下游效应.
- 在Xist中发现的元素对选择机制产生了积极的影响,挑战了当前的模型.
更多相关视频
12:42Quick Fluorescent In Situ Hybridization Protocol for Xist RNA Combined with Immunofluorescence of Histone Modification in X-chromosome Inactivation
Published on: November 26, 2014
08:27A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
Published on: May 22, 2019
相关概念视频
X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-Inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
Inheritance of Chromatin Structures
Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Dosage Compensation
In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will have...
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will have...
X-inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
